Pediatric Niemann-Pick disease

Niemann-Pick disease (NPD), also known as sphingomyelin deposition disease, is a congenital glucose and lipid metabolism disease caused by sphingomyelinase deficiency. It is characterized by systemic mononuclear macrophages and the nervous system with a large number of foam cells containing sphingomyelin. The clinical features are liver, splenomegaly, and central nervous system involvement.